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中文Angiopathy, Hereditary, with Nephropathy, Aneurysms, and Muscle Cramps (HANAC)
Alias:
Autosomal Dominant Familial Hematuria-Retinal Arteriolar Tortuosity-Contractures Syndrome
Hanac Syndrome
Hanac
Hereditary Angiopathy with Nephropathy, Aneurysms, and Muscle Cramps Syndrome
Hereditary Angiopathy-Nephropathy-Aneurysms-Muscle Cramps Syndrome
Autosomal Dominant Familial Hematuria, Retinal Arteriolar Tortuosity, Contractures
Hereditary Angiopathy with Nephropathy, Aneurysm, and Muscle Cramps Syndrome
Hereditary Angiopathy with Nephropathy Aneurysms and Muscle Cramps
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遗传性血管病，伴有肾病、动脉瘤和肌肉痉挛，又称常染色体显性家族性血尿-视网膜动脉扭曲-收缩综合征，与视网膜动脉、扭曲和出血、脑内有关，症状包括肌肉痉挛。与遗传性血管病，伴有肾病、动脉瘤和肌肉痉挛有关的重要基因是COL4A1（IV型胶原α1链）。相关组织包括眼睛和肾脏，相关表型为肾功能不全和多囊肾。
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